Results 71 to 80 of about 10,452 (214)

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy

, 2010
PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene.
White, Edward, Munier, Francis L, Robson, Anthony G., Munier, F.L., Hunt, DM, Borruat, Francois-Xavier, Holder, Graham E., Carmona, Ruben, Moore, Anthony T., Bedell, M., McClements, M., Barthelmes, D, Tiab, L., Escher, Pascal, Tiab, L, McClements, M, Gaillard, M.C., Bradshaw, K., Moore, A T, Webster, A.R., Moore, A.T., Escher, P., Hunt, D.M., Hunt, D M, Webster, A R, Schorderet, D F, Moore, Anthony T, Carmona, R, Gaillard, Marie-Claire, Moore, AT, Schorderet, Daniel F., Munier, Francis L., Borruat, F.X., Holder, G E, Webster, AR, Schorderet, Daniel F, Borruat, F X, Bradshaw, K, Robson, AG, Zhang, K., Michaelides, Michel, Barthelmes, D., White, E., Gaillard, MC, Bedell, M, Bradshaw, Keith, Bedell, Matthew, McClements, Michelle, Michaelides, M., Schorderet, D.F., Webster, Andrew R, Escher, P, Borruat, FX, White, E, Robson, A.G., Carmona, R., Zhang, Kang, Hunt, David M, Holder, GE, Holder, Graham E, Munier, FL, Tiab, Leila, Robson, A G, Michaelides, M, Webster, Andrew R., Hunt, David M., Munier, F L, Robson, Anthony G, Schorderet, DF, Holder, G.E., Zhang, K, Barthelmes, Daniel, Gaillard, M C   +72 more
core   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, Volume 104, Issue 3, Page e222-e231, May 2026.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes

, 2020
Cone rod dystrophy is a rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance.
Jean-Philippe Woillez
core  

ABCA4-related retinopathies in Lebanon

Heliyon
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies.
Mariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Said El Shamieh   +4 more
doaj   +1 more source

Decline of Visual Function and Risk of Legal Blindness With Age in RPGR ‐Associated Retinal Degeneration: A Multicenter Study

Clinical &Experimental Ophthalmology, Volume 54, Issue 4, Page 482-491, May/June 2026.
ABSTRACT Background This retrospective multicenter longitudinal analysis analysed the loss trajectory of best recorded visual acuity (BRVA) and Goldmann visual field (GVF) in RPGR‐associated retinal degeneration (RPGR‐RD). Methods Patients with genetically confirmed RPGR‐RD were classified into rod‐cone (RC), cone/cone‐rod (CR) and female‐carrier ...
Bela J. Parekh, Joshua D. Stein, Rebhi Abuzaitoun, Chris A. Andrews, Kari Branham, Dejan Milentijevic, Divya Narayanan, Naheed W. Khan, Suzann Pershing, Sophia Y. Wang, Baseer U. Ahmad, Thomas B. Connor, Jennifer L. Patnaik, Marc Mathias, Monique Leys, Brian McMillan, Nnana Amakiri, Taylor J. Johnson, Catherine Q. Sun, Jacque L. Duncan, K. Thiran Jayasundera, on behalf of the SOURCE consortium, Sejal Amin, Paul A. Edwards, Divya Srikumaran, Fasika Woreta, Jeffrey S. Schultz, Anurag Shrivastava, Baseer Ahmad, Louis R. Pasquale, Paul J. Bryar, Dustin D. French, Michelle Hribar, Merina Thomas, Brian L. Vanderbeek, Suzann Pershing, Sophia Y. Wang, Michael Deiner, Catherine Sun, Jennifer Patnaik, Prem Subramanian, Saleha Munir, Wuqaas Munir, Joshua Stein, Lindsey De Lott, Rajeev Ramachandran, Robert Feldman, Brian C. Stagg, Barbara Wirostko, Brian McMillian, Arsham Sheybani, Soshian Sarrapour, Kristen Harris‐Nwanyanwu   +52 more
wiley   +1 more source

Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function [PDF]

, 2014
Purpose: We report a psychophysical investigation of five observers with the retinal disorder "cone dystrophy with supernormal rod ERG", caused by mutations in the gene KCNV2 that encodes a voltage-gated potassium channel found in rod and cone ...
Moore, AT, Michaelides, M, Cammack, J, Webster, AR, Henning, B, Ripamonti, C, Stockman, A   +6 more
core  

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

American Journal of Ophthalmology Case Reports, 2020
Purpose: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations.
Sofia M. Muns, BS, Lorena A. Montalvo, MD, Jose G. Vargas Del Valle, BS, Meliza Martinez, MD, Armando L. Oliver, MD, Natalio J. Izquierdo, MD   +5 more
doaj   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Loss of Kv8.2 in the Mouse Retina Is Associated With Altered One‐Carbon Metabolism

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Kv8.2 knockout mice, a model of KCNV2 retinopathy, exhibit impaired potassium homeostasis in photoreceptors and slowly progressive rod degeneration. To investigate metabolic adaptations accompanying this dysfunction, untargeted metabolomic profiling was performed on mouse retinas.
Karina Kruth, Sheila A. Baker
wiley   +1 more source

The metal ion binding protein Cnnm4 is mutated in rod-cone dystrophy/amelogenesis imperfecta syndrome

, 2009
Purpose:To identify the gene causing rod-cone dystrophy/amelogenesis imperfecta Methods:Homozygosity mapping was performed using the Affymetrix 50K XbaI array in one family and candidate genes in the linked interval were sequenced with ABI Dye ...
Polok, B., Mégarbane, A., Favez, T., Hamel, C., Ambresin, A., Munier, F.L., Voirol, N., Escher, Pascal, Bolay, S., Schorderet, D.F.   +9 more
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